Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations
TURKISH JOURNAL OF PEDIATRICS, cilt.47, sa.2, ss.167-169, 2005 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 47 Sayı: 2
- Basım Tarihi: 2005
- Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.167-169
- Anahtar Kelimeler: Fanconi-Bickel syndrome, glycogenosis, mutation analysis, GLUCOSE-TRANSPORTER, GLUT2 GENE, SLC2A2 GLUT2
- Hacettepe Üniversitesi Adresli: Evet
Özet
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.